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List of works by Roberto Massa

A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy

scientific article published on April 2017

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease

scientific article published on 22 May 2014

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article published on 10 November 2015

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Active muscle length reduction progressively damages soleus in hindlimb-suspended rabbits.

scientific article

Adrenomyeloneuropathy partially responsive to steroid pulse therapy

scientific article published in September 2002

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

scientific article

Aquaporin 4 expression in human skeletal muscle fiber types.

scientific article published on 28 November 2017

Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

scientific article

Brain MR diffusion tensor imaging in Kennedy's disease

scientific article published on April 2015

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

scientific article published on 25 July 2015

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis

scientific article published on 16 November 2016

Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease

scientific article published in December 1998

Diagnosis, treatment and follow-up of the carpal tunnel syndrome: a review

scientific article published on 10 February 2010

Differential features of muscle fiber atrophy in osteoporosis and osteoarthritis

scientific article published on 26 April 2012

Dopamine denervation induces neurotensin immunoreactivity in GABA-parvalbumin striatal neurons.

scientific article published in September 2001

Dystrophin is not essential for the integrity of the cytoskeleton

scientific article published on 01 January 1994

Early subclinical cochlear dysfunction in myotonic dystrophy type 1.

scientific article published on 21 July 2011

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

scientific article

Epileptic activity following 10 minute cerebral ischemia in Mongolian gerbils: an electrophysiological study

scientific article published in April 1990

Epileptic activity following cerebral ischemia in Mongolian gerbils is depressed by CPP, a competitive antagonist of the N-methyl-D-aspartate receptor

scientific article published in August 1991

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

scientific article published on 25 February 2016

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

scientific article published on 12 June 2017

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

scientific article published on 29 December 2017

Familial inclusion body myositis among Kurdish-Iranian Jews

scientific article published on 01 May 1991

Glucocorticoids and immunosuppressants do not change the prevalence of necrosis and regeneration in mdx skeletal muscles

scientific article published on 01 August 1991

Hashimoto's encephalopathy presenting with musical hallucinosis

scientific article published on 01 May 2003

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

scientific article

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

scientific article published in June 2005

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles

scientific article

Immunocytochemical localization of vinculin in muscle and nerve

scientific article published on 01 November 1995

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

scientific article published on 6 January 2016

Intestinal pseudobstruction as presenting event of fatal cerivastatin-induced myopathy

scientific article published in July 2003

Intracellular localization and isoform expression of the voltage-dependent anion channel (VDAC) in normal and dystrophic skeletal muscle

scientific article published on 01 January 2000

Inverse correlation between VEGF and soluble VEGF receptor 2 in POEMS with AIDP responsive to intravenous immunoglobulin

scientific article published on 01 September 2010

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

scientific article published on 30 March 2010

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

scientific article

Late-Onset Pompe Disease with Nemaline Bodies

scientific article published on 27 September 2018

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

scientific article published on 22 October 2009

Long-term outcome of thoracoscopic extended thymectomy for nonthymomatous myasthenia gravis

scientific article

Loss and renewal of thick myofilaments in glucocorticoid-treated rat soleus after denervation and reinnervation

scientific article published on 01 November 1992

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

scientific article published on 01 February 2003

Minimalist thoracoscopic resection of thymoma associated with myasthenia gravis.

scientific article published on 22 June 2017

Morphological changes in the sciatic nerve of diabetic rats treated with low molecular weight heparin OP 2123/parnaparin.

scientific article

Muscle MRI in neutral lipid storage disease (NLSD).

scientific article published on 13 May 2017

Myofibrillar disruption in the rabbit soleus muscle after one-week hindlimb suspension

scientific article published on 01 April 1991

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

scientific article

NADPH diaphorase activity is inhibited by EDTA in neurons but not in choroid plexus epithelium.

scientific article published in August 1993

Neurofibromatous neuropathy: An ultrastructural study

scientific article published on 27 March 2018

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

scientific article published on 29 August 2016

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

scientific article

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

scientific article

Nitrergic neurons make synapses on dual-input dendritic spines of neurons in the cerebral cortex and the striatum of the rat: implication for a postsynaptic action of nitric oxide

scientific article published on 01 January 2000

Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot–Marie–Tooth disease type 1A

scientific article published on 01 March 2006

Paucisymptomatic Marchiafava-Bignami disease with relevant diffusion-weighted MRI lesions.

scientific article

Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease

scientific article published on 01 April 2012

Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I disease

scientific article published on 16 May 2002

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

scientific article

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

scientific article published in August 2014

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

scientific article

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

scientific article

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study.

scientific article published on 21 February 2011

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.

scientific article published on 10 July 2013

Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study

scientific article

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies

scientific article

Spasticity as an ictal pattern due to excitotoxic upper motor neuron damage.

scientific article published on 24 October 2012

Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1b

scientific article published on 01 December 2005

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).

scientific article

Sudomotor skin responses to brain stimulation do not depend on nerve sensory fiber functionality.

scientific article

Sural nerve without nerve fibers in leprous neuropathy

scientific article published on 01 February 2002

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

scientific article published on 20 November 2009

Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity

scientific article published on 11 February 2019

Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy.

scientific article published on 29 November 2006

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.

scientific article published on December 2016

Vitamin D deficiency in myotonic dystrophy type 1.

scientific article published on 11 June 2013

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